view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132067603 | GACTGTGG others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0013others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0026 others(89): Show |
92 | 156 | 0.5897 | -19 | c.-13 others(38): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132067769 | CTGGGCTT others(12): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0065 | 1 | 156 | 0.0064 | -19 | c.-13 others(38): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132068064 | CGTGTGGA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0001c0015others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0026 others(89): Show |
92 | 156 | 0.5897 | -19 | c.-13 others(38): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132110248 | ACTGGTGG others(12): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0139 | 1 | 156 | 0.0064 | -19 | c.135 others(36): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132149634 | CTCCGCCC others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0001c0040others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0036others(15): Show | a0001c0001t0002g0133 a0001c0001t0004g0128 a0001c0001t0036g0014 others(25): Show |
28 | 156 | 0.1795 | -19 | c.194 others(36): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | chr10 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25699722 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 78 | 0.0128 | -19 | c.597 others(34): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134145119 | TGTTAGGG others(12): Show |
T | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 388 | 0.0026 | -19 | c.612 others(34): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15413004 | TTTTGTTT others(12): Show |
T | intron_variant | MODIFIER | HG02300.hp1 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 a0001c0002t0001g0169 |
2 | 264 | 0.0076 | -19 | c.323 others(36): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63337584 | AAAAGAAA others(12): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 304 | 0.0033 | -19 | c.333 others(38): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337589 | AAAAGAAA others(12): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0023 | a0023c0017 | a0023c0017t0001 | a0023c0017t0001g0298 | 1 | 305 | 0.0033 | -19 | c.333 others(38): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337594 | AAAAGAAA others(12): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0156 | 1 | 306 | 0.0033 | -19 | c.333 others(38): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD4_chr1_227726191_227740302 | 227735712 | ATGGGACC others(12): Show |
A | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 434 | 0.0023 | -19 | c.-45 others(28): Show |
JMJD4 | ENSG00000081692.13 | transcript | ENST00000620518.5 | protein_coding | 411 | chr1 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79292954 | GTATCTAT others(12): Show |
G | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 340 | 0.0029 | -19 | c.152 others(38): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
JOSD2_chr19_50500998_50516191 | 50506781 | CCCACCCA others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0009 | a0001c0001t0001a0001c0004t0001a0003c0009t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(19): Show |
25 | 374 | 0.0668 | -19 | c.273 others(34): Show |
JOSD2 | ENSG00000161677.12 | transcript | ENST00000598418.6 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44132353 | CAGACACA others(12): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0029 | 1 | 334 | 0.0030 | -19 | c.117 others(40): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44133966 | TTATAATA others(12): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0013 | a0004c0013t0003 | a0004c0013t0003g0049 | 1 | 336 | 0.0030 | -19 | c.117 others(40): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18279694 | AAGCGAAC others(12): Show |
A | splice_region_variant | LOW | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0000 | 1 | 406 | 0.0025 | -19 | c.*72 others(28): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124044885 | CCTTCCTT others(12): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 |
a0001 | a0001c0047a0001c0065 | a0001c0047t0009a0001c0065t0009 | a0001c0047t0009g0092 a0001c0065t0009g0093 |
2 | 113 | 0.0177 | -19 | c.73+ others(36): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124170831 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0069 | a0001c0069t0022 | a0001c0069t0022g0101 | 1 | 15 | 0.0667 | -19 | c.74- others(36): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124227663 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0013 | 1 | 5 | 0.2000 | -19 | c.74- others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124618086 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01175.hp1 others(11): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0005others(7): Show | a0001c0002t0002a0001c0002t0024a0001c0004t0030others(9): Show | a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0051 others(11): Show |
14 | 18 | 0.7778 | -19 | c.518 others(40): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 512105 | TTGTCTTC others(12): Show |
T | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 252 | 0.0040 | -19 | c.-84 others(36): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 598695 | ACCTCGGC others(12): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02109.hp2 others(7): Show |
a0004a0008a0009others(1): Show | a0004c0005a0008c0007a0009c0006others(2): Show | a0004c0005t0001a0008c0007t0005a0009c0006t0002others(2): Show | a0004c0005t0001g0104 a0008c0007t0005g0004 a0009c0006t0002g0060 others(7): Show |
10 | 252 | 0.0397 | -19 | c.-83 others(38): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8346359 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | NA18941.hp1 NA18993.hp2 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0279 a0006c0006t0002g0280 |
2 | 404 | 0.0050 | -19 | c.-31 others(30): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3098 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346367 | AAATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0349 | 1 | 401 | 0.0025 | -19 | c.-31 others(30): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3106 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346369 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01071.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0010a0002c0002a0003c0026others(2): Show | a0001c0010t0001a0002c0002t0001a0003c0026t0001others(2): Show | a0001c0010t0001g0117 a0002c0002t0001g0001 a0002c0002t0001g0004 others(12): Show |
15 | 288 | 0.0521 | -19 | c.-31 others(30): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3108 | chr19 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62293061 | TTTGTGTG others(12): Show |
T | intron_variant | MODIFIER | HG03540.hp1 NA21309.hp1 NA21309.hp2 |
a0001a0002 | a0001c0009a0001c0027a0002c0004 | a0001c0009t0011a0001c0027t0003a0002c0004t0006 | a0001c0009t0011g0298 a0001c0027t0003g0007 a0002c0004t0006g0297 |
3 | 319 | 0.0094 | -19 | c.-70 others(38): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62311247 | TACCCTAG others(12): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 HG02258.hp2 others(3): Show |
a0002a0004a0006 | a0002c0008a0004c0042a0006c0006 | a0002c0008t0018a0004c0042t0006a0006c0006t0005others(1): Show | a0002c0008t0018g0013 a0004c0042t0006g0010 a0006c0006t0005g0008 others(3): Show |
6 | 320 | 0.0188 | -19 | c.-71 others(36): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03139.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0229 |
3 | 100 | 0.0300 | -19 | c.175 others(38): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052963 | CCAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0321 | 1 | 270 | 0.0037 | -19 | c.184 others(38): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01175.hp1 HG02071.hp1 others(6): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0001a0001c0002t0007a0005c0007t0001 | a0001c0002t0001g0016 a0001c0002t0001g0027 a0001c0002t0001g0036 others(6): Show |
9 | 66 | 0.1364 | -19 | c.184 others(38): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL2_chr12_48648211_48687238 | 48649854 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp1 others(24): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0005 a0001c0002t0001g0025 a0001c0002t0001g0028 others(18): Show |
27 | 320 | 0.0844 | -19 | c.*41 others(30): Show |
KANSL2 | ENSG00000139620.13 | transcript | ENST00000420613.7 | protein_coding | 3356 | chr12 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75636232 | ACTATTAA others(12): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 378 | 0.0026 | -19 | c.483 others(34): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
KASH5_chr19_49383249_49422990 | 49386787 | GGAGGGGG others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02055.hp1 others(17): Show |
a0001a0002 | a0001c0005a0002c0003a0002c0009 | a0001c0005t0010a0002c0003t0004a0002c0009t0011 | a0001c0005t0010g0051 a0002c0003t0004g0002 a0002c0003t0004g0020 others(11): Show |
20 | 352 | 0.0568 | -19 | c.-16 others(30): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1461 | chr19 | TogoVar | |||||||
KASH5_chr19_49383249_49422990 | 49402941 | TGGGAAGA others(12): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 352 | 0.0028 | -19 | c.798 others(36): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KAT2A_chr17_42108111_42126367 | 42120181 | GGCCCCAC others(12): Show |
G | intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0047 | 1 | 352 | 0.0028 | -19 | c.609 others(32): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 3/17 | chr17 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20062247 | TATATAAA others(12): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 351 | 0.0028 | -19 | c.304 others(38): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106996 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 372 | 0.0027 | -19 | c.852 others(36): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | chr3 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054247 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0047 | a0001c0003t0047g0190 | 1 | 371 | 0.0027 | -19 | c.-26 others(30): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2261 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054249 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp2 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0021 | a0001c0003t0003g0135 a0001c0003t0021g0193 |
2 | 368 | 0.0054 | -19 | c.-26 others(30): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2263 | chr8 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74830760 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 212 | 0.0047 | -19 | c.-32 others(38): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74990196 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0136 |
2 | 36 | 0.0556 | -19 | c.262 others(38): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT8_chr16_31112664_31136359 | 31121403 | GAGCTACT others(12): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 288 | 0.0035 | -19 | c.462 others(34): Show |
KAT8 | ENSG00000103510.20 | transcript | ENST00000219797.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KATNA1_chr6_149589873_149653714 | 149636136 | GATAATGT others(12): Show |
G | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 296 | 0.0034 | -19 | c.162 others(36): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27690344 | AGATAGAT others(12): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01515.hp1 HG01517.hp1 others(2): Show |
a0001a0003 | a0001c0005a0001c0011a0003c0003 | a0001c0005t0002a0001c0011t0002a0003c0003t0002 | a0001c0005t0002g0148 a0001c0011t0002g0141 a0001c0011t0002g0152 others(2): Show |
5 | 150 | 0.0333 | -19 | c.941 others(36): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681651 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 136 | 0.0074 | -19 | c.226 others(38): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681653 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03654.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0002c0002t0001 | a0001c0001t0023g0127 a0002c0002t0001g0079 |
2 | 132 | 0.0152 | -19 | c.226 others(38): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14841405 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01167.hp1 others(22): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0018others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0130 others(22): Show |
25 | 30 | 0.8333 | -19 | c.227 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918706 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0048 | 1 | 142 | 0.0070 | -19 | c.227 others(38): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KBTBD12_chr3_127910232_127992666 | 127945164 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG01071.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0004g0016 a0001c0001t0004g0046 a0001c0001t0004g0047 others(15): Show |
23 | 95 | 0.2421 | -19 | c.149 others(40): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |